J Chelly

Summary

Country: France

Publications

  1. ncbi request reprint Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation
    J Chelly
    INSERM U129 ICGM, CHU Cochin, Paris, France
    Hum Mol Genet 8:1833-8. 1999
  2. ncbi request reprint Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation
    P Billuart
    INSERM U129 ICGM, Faculté de Médecine Cochin, 27, rue du Faubourg Saint Jacques, 75014, Paris, France
    Ann Genet 43:5-9. 2000
  3. ncbi request reprint Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24
    V Des Portes
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Am J Med Genet 72:324-8. 1997
  4. ncbi request reprint Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
    P Billuart
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Nature 392:923-6. 1998
  5. ncbi request reprint A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
    V Des Portes
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Cell 92:51-61. 1998
  6. ncbi request reprint A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
    R Zemni
    INSERM Unité 129 ICGM, CHU Cochin, Paris, France
    Nat Genet 24:167-70. 2000
  7. ncbi request reprint Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation
    T Bienvenu
    Institut National de la Santé et de la Recherche Médicale U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Am J Med Genet 93:294-8. 2000
  8. ncbi request reprint Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system
    G Friocourt
    Laboratoire de Génétique et Physiopathologie des Retards Mentaux, ICGM, INSERM, CHU, Cochin, 24, rue du Faubourg Saint Jacques, Paris, 75014, France
    Mol Cell Neurosci 18:307-19. 2001
  9. pmc Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22
    V Des Portes
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    J Med Genet 34:177-83. 1997
  10. ncbi request reprint Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation
    K Poirier
    Institut Cochin INSERM U567, université Paris V René Descartes, IFR116, 24 rue du Faubourg St Jacques, 75014, Paris, France
    Hum Genet 118:45-8. 2005

Collaborators

Detail Information

Publications26

  1. ncbi request reprint Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation
    J Chelly
    INSERM U129 ICGM, CHU Cochin, Paris, France
    Hum Mol Genet 8:1833-8. 1999
    ....
  2. ncbi request reprint Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation
    P Billuart
    INSERM U129 ICGM, Faculté de Médecine Cochin, 27, rue du Faubourg Saint Jacques, 75014, Paris, France
    Ann Genet 43:5-9. 2000
    ..The other substitutions were located in exon 2, a G-->A substitution at position 133 (A45T), and in exon 10, a C-->T substitution at position 902 (T301M), but these are common polymorphisms rather than disease-causing mutations...
  3. ncbi request reprint Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24
    V Des Portes
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Am J Med Genet 72:324-8. 1997
    ..Recombination events observed with the flanking markers DXS1105 and DXS8067 delineate a 17 cM interval. This interval overlaps with several loci of XLMR disorders previously localized in Xq23-q24, which are reviewed herein...
  4. ncbi request reprint Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
    P Billuart
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Nature 392:923-6. 1998
    ..Such activation is known to affect cell migration and outgrowth of axons and dendrites in vivo. Our results demonstrate an association between cognitive impairment and a defect in a signalling pathway that depends on a Ras-like GTPase...
  5. ncbi request reprint A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
    V Des Portes
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Cell 92:51-61. 1998
    ..The complete disorganization observed in lissencephaly and heterotopia thus seems to reflect a failure of early events associated with neuron dispersion...
  6. ncbi request reprint A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
    R Zemni
    INSERM Unité 129 ICGM, CHU Cochin, Paris, France
    Nat Genet 24:167-70. 2000
    ..We speculate that through this interaction, TM4SF2 might have a role in the control of neurite outgrowth...
  7. ncbi request reprint Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation
    T Bienvenu
    Institut National de la Santé et de la Recherche Médicale U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Am J Med Genet 93:294-8. 2000
    ..This mutation R67C is located in a conserved polybasic domain (AA 66-68) of the protein that is predicted to play a major role in the GTPases binding and stimulation of Pak activity...
  8. ncbi request reprint Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system
    G Friocourt
    Laboratoire de Génétique et Physiopathologie des Retards Mentaux, ICGM, INSERM, CHU, Cochin, 24, rue du Faubourg Saint Jacques, Paris, 75014, France
    Mol Cell Neurosci 18:307-19. 2001
    ..Taken together these data indicate that a certain proportion of Doublecortin interacts with AP-1 and/or AP-2 in vivo and are consistent with a potential involvement of Doublecortin in protein sorting or vesicular trafficking...
  9. pmc Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22
    V Des Portes
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    J Med Genet 34:177-83. 1997
    ..In addition, haplotype inheritance in two families showed a grandpaternal origin of the mutation and suggested in one family the presence of mosaicism in germline cells of normal transmitting males...
  10. ncbi request reprint Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation
    K Poirier
    Institut Cochin INSERM U567, université Paris V René Descartes, IFR116, 24 rue du Faubourg St Jacques, 75014, Paris, France
    Hum Genet 118:45-8. 2005
    ..We thus show that the mother displays somatic mosaicism for the duplication thereby highlighting the need to reconsider the molecular screening in sporadic cases of MR...
  11. ncbi request reprint Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
    G Zanni
    University of Paris 5 René Descartes, INSERM Unité 567, CNRS UMR8104, Paris, France
    Neurology 65:1364-9. 2005
    ....
  12. ncbi request reprint So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation
    V Des Portes
    Service de Neuropediatrie, Hopital Saint Vincent de Paul, Paris, France
    Seizure 11:273-7. 2002
    ..The pathophysiology of epilepsy in this woman is discussed in the light of the role of doublecortin, not only in neuronal migration, but also in axonal growth and dendritic connectivity...
  13. ncbi request reprint DHPLC-based method for DNA methylation analysis of differential methylated regions from imprinted genes
    P Couvert
    Université Paris V CHU Cochin, Paris, France
    Biotechniques 34:356-62. 2003
    ..We conclude that DHPLC analysis could be used to increase the throughput efficiency of methylation pattern analysis of imprinted genes after the bisulfite conversion of genomic DNA and unbiased PCR amplification...
  14. ncbi request reprint A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
    A Carrie
    INSERM Unité 129 ICGM, CHU Cochin, 24 rue du Faubourg Saint Jacques, 75014 Paris, France
    Nat Genet 23:25-31. 1999
    ..Its high level of expression in post-natal brain structures involved in the hippocampal memory system suggests a specialized role for this new gene in the physiological processes underlying memory and learning abilities...
  15. ncbi request reprint Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia
    N McDonell
    Institut Cochin de Genetique Moleculaire, INSERM Unité 129, CHU Cochin Port Royal, 24 rue du Faubourg Saint Jacques, Paris, 75014, France
    Genomics 64:221-9. 2000
    ..Assembly and physical mapping of this complex 1-Mb contig establish a foundation for ongoing sequencing and gene identification projects in the region...
  16. ncbi request reprint Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation
    T Bienvenu
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris
    Eur J Hum Genet 5:105-9. 1997
    ..We identified a yeast artificial chromosome spanning the X-chromosome breakpoint by using fluorescent in situ hybridization techniques. A cosmid library of this YAC has been constructed and the search for candidate genes is in progress...
  17. doi request reprint The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome
    J Nectoux
    Laboratoire de Biochimie et Genetique Moleculaire, Hopital Cochin, Paris, France
    Neurology 70:2145-51. 2008
    ..One MeCP2 target is the brain-derived neurotrophic factor (BDNF) gene. We investigated, according to the MECP2 genotype, the role of the BDNF functional polymorphism (Val66Met) on the severity of RTT...
  18. doi request reprint Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes
    J Nectoux
    Genetics and Pathophysiology of Neurodevelopmental and Nueromuscular Disorders Department, Cochin Institute, Paris Descartes University, Paris, France
    J Cell Mol Med 14:1962-74. 2010
    ....
  19. ncbi request reprint [Update on the genetics of X-linked mental retardation]
    N Bahi-Buisson
    Departement de Pediatrie, Service de Neuropédiatrie et Maladies Métaboliques, Hopital Necker, and Université René Descartes, Paris, France
    Rev Neurol (Paris) 162:952-63. 2006
    ..Non syndromic XLMR proteins include 5 distinct classes: transmembrane receptors, small GTPases effectors or regulators, enzymes and translational regulators...
  20. doi request reprint Emerging major synaptic signaling pathways involved in intellectual disability
    A Pavlowsky
    Department of Genetic and Development, Institut Cochin, Universite Paris Descartes, CNRS, UMR8104, Paris, France
    Mol Psychiatry 17:682-93. 2012
    ....
  21. pmc A gene for dominant nonspecific X-linked mental retardation is located in Xq28
    V Des Portes
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Am J Hum Genet 60:903-9. 1997
    ..The interval of assignment noted in this family overlaps with five MRX loci previously reported in Xq28...
  22. ncbi request reprint Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons
    F Francis
    U129 de l INSERM, Institut Cochin de Genetique Moleculaire, Paris
    Neuron 23:247-56. 1999
    ..Our data suggest that the cortical dysgeneses associated with the loss of Doublecortin function might result from abnormal cytoskeletal dynamics in neuronal cell development...
  23. ncbi request reprint Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia
    D Tentler
    Department of Genetics and Pathology, Uppsala University Hospital, Sweden
    Eur J Hum Genet 7:541-8. 1999
    ..In combination with our results from physical mapping we suggest that a region around the oligophrenin-1 locus is relatively bereft of vital genes...
  24. ncbi request reprint doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)
    V Des Portes
    INSERM U129, Institut Cochin de Genetique Moleculaire, 24 rue du Faubourg Saint Jacques, 75014 Paris, France
    Hum Mol Genet 7:1063-70. 1998
    ..The absence of phenotype-genotype correlations suggests that X-inactivation patterns of neuronal precursor cells are likely to contribute to the variable clinical severity of this disorder in females...
  25. ncbi request reprint Dystrophin gene transcribed from different promoters in neuronal and glial cells
    J Chelly
    Unité de Recherche en Génétique et Pathologie Moléculaire, INSERM, CHU Cochin, Paris, France
    Nature 344:64-5. 1990
    ..By contrast, the muscle-type promoter is active in a wider range of cell types, including not only striated and smooth muscle, but also glial cells to a lesser extent, and probably neurons...
  26. ncbi request reprint Developmental patterns in the expression of Myf5, MyoD, myogenin, and MRF4 during myogenesis
    D Montarras
    Institut Pasteur, Departement de Biologie Moleculaire, CNRS, Paris, France
    New Biol 3:592-600. 1991
    ..Temporal and phenotypic differences related to the expression of Myf5, MyoD, Myogenin, and MRF4 suggest that these factors fulfil distinct roles in the control of myogenesis...